Product Details

SNP ID

rs199592703

Assay Type

Functionally Tested

NCBI dbSNP Submissions

5

Location

Chr.1:21823626 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCCCCAGACTTACCGATGTAGAC[A/G]CTGCCCTTGGCGTTGACTGCCACGT

Phenotype

MIM: 142461

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

HSPG2 PubMed Links

Additional Information

For this assay, SNP(s) [rs1138469,rs3736360] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

HSPG2

Gene Name

heparan sulfate proteoglycan 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291860.1	13073	Silent Mutation			NP_001278789.1
NM_005529.6	13073	Silent Mutation			NP_005520.4
XM_011541318.2	13073	Silent Mutation			XP_011539620.1
XM_017001120.1	13073	Silent Mutation			XP_016856609.1
XM_017001121.1	13073	Silent Mutation			XP_016856610.1
XM_017001122.1	13073	Silent Mutation			XP_016856611.1

Gene

LDLRAD2

Gene Name

low density lipoprotein receptor class A domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013693.2	13073	UTR 3			NP_001013715.2
XM_005245873.4	13073	Intron			XP_005245930.1

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